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ey0017.1-6 | Hypopituitarism: Disease Modeling and New Discoveries | ESPEYB17

1.6. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

R Matsumoto , H Suga , T Aoi , H Bando , H Fukuoka , G Iguchi , S Narumi , T Hasegawa , K Muguruma , W Ogawa , Y Takahashi

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...

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ey0018.1-4 | Development/Ontogeny | ESPEYB18

1.4. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

ML Brinkmeier , H Bando , AC Camarano , S Fujio , K Yoshimoto , FS de Souza , SA Camper

J Clin Invest. 2020 Aug 3;130(8):45014515. doi: 10.1172/JCI136745. PMID: 32453714.This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that Isl1 has multiple, critical roles in pituitary gland development. Pituitary-specific Isl1 deletion caused hypopituitarism with increased stem c...

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ey0019.1-6 | Genetics | ESPEYB19

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

P Gergics , C Smith , H Bando , AAL Jorge , D Rockstroh-Lippold , SA Vishnopolska , F Castinetti , M Maksutova , LRS Carvalho , J Hoppmann , Mayer J Martinez , F Albarel , D Braslavsky , A Keselman , I Bergada , MA Marti , A Saveanu , A Barlier , Jamra R Abou , MH Guo , A Dauber , M Nakaguma , BB Mendonca , SN Jayakody , AB Ozel , Q Fang , Q Ma , JZ Li , T Brue , Millan MI Perez , IJP Arnhold , R Pfaeffle , JO Kitzman , SA Camper

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...

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ESPE Yearbook of Paediatric Endocrinology

1.6. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

1.4. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

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